ClinVar Miner

List of variants in gene LCAT reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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NM_000229.2(LCAT):c.1034C>T (p.Thr345Met) rs28940888
NM_000229.2(LCAT):c.1112C>T (p.Thr371Met) rs121908053
NM_000229.2(LCAT):c.1197dup (p.Gln400fs) rs794726663
NM_000229.2(LCAT):c.1210A>G (p.Met404Val) rs779114194
NM_000229.2(LCAT):c.321C>A (p.Tyr107Ter) rs121908055
NM_000229.2(LCAT):c.440C>T (p.Thr147Ile) rs121908050
NM_000229.2(LCAT):c.463A>G (p.Asn155Asp) rs121908057
NM_000229.2(LCAT):c.475C>T (p.Arg159Trp) rs28940887
NM_000229.2(LCAT):c.491_493dup (p.Ala165_Ala166insGly) rs794726662
NM_000229.2(LCAT):c.508T>C (p.Trp170Arg) rs267607211
NM_000229.2(LCAT):c.524-22T>C rs794726664
NM_000229.2(LCAT):c.698T>C (p.Leu233Pro) rs28942087
NM_000229.2(LCAT):c.756C>A (p.Asn252Lys) rs121908049
NM_000229.2(LCAT):c.827T>A (p.Met276Lys) rs121908054
NM_000229.2(LCAT):c.951G>A (p.Met317Ile) rs121908048
NM_000229.2(LCAT):c.969_971CCT[1] (p.Leu325del) rs121908056
NM_000229.2(LCAT):c.997G>A (p.Val333Met) rs776035233

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